Linked Data
ClinVar Variation Id:
2976063
ClinVar RCV Id:
RCV003836213
gnomAD v3:
12-50085546-G-A
gnomAD v4:
12-50085546-G-A
MyVariant Identifiers:
chr12:g.50479329G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.50085546G>A , CM000674.2:g.50085546G>A | GRCh38 |
| NC_000012.11:g.50479329G>A , CM000674.1:g.50479329G>A | GRCh37 |
| NC_000012.10:g.48765596G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394963.9:c.177G>A MANE Select | ENSP00000378414.4:p.Pro59= | |
| ENST00000381513.8:c.177G>A | ENSP00000370924.4:p.Pro59= | |
| ENST00000394963.8:c.177G>A | ENSP00000378414.4:p.Pro59= | |
| ENST00000547247.5:n.205G>A | ||
| ENST00000547637.1:n.194G>A | ||
| ENST00000550477.5:c.177G>A | ENSP00000448030.1:p.Pro59= | |
| ENST00000551966.5:c.177G>A | ENSP00000447386.1:p.Pro59= | |
| NM_003076.4:c.177G>A | NP_003067.3:p.Pro59= | |
| NM_139071.2:c.177G>A | NP_620710.2:p.Pro59= | |
| XM_005269107.3:c.177G>A | XP_005269164.2:p.Pro59= | |
| XM_011538695.1:c.177G>A | XP_011536997.1:p.Pro59= | |
| XR_944683.1:n.347G>A | ||
| XR_944684.1:n.347G>A | ||
| XM_005269107.4:c.177G>A | XP_005269164.2:p.Pro59= | |
| XM_011538695.2:c.177G>A | XP_011536997.1:p.Pro59= | |
| XR_944683.2:n.311G>A | ||
| XR_944684.2:n.311G>A | ||
| NM_003076.5:c.177G>A MANE Select | NP_003067.3:p.Pro59= | |
| NM_139071.3:c.177G>A | NP_620710.2:p.Pro59= |